ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4016dup (p.Cys1339fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003640378 SCV004445679 pathogenic KBG syndrome 2023-03-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1339Trpfs*4) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ANKRD11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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